Canonical Allele Identifier: CA397952415

Gene: GUCY2D

Linked Data

• MyVariant Identifiers: chr17:g.7915859C>T (hg19) ; chr17:g.8012541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012541C>T , CM000679.2:g.8012541C>T	GRCh38
NC_000017.10:g.7915859C>T , CM000679.1:g.7915859C>T	GRCh37
NC_000017.9:g.7856584C>T	NCBI36
NG_009092.1:g.14872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2048C>T MANE Select	ENSP00000254854.4:p.Thr683Ile
ENST00000254854.4:c.2048C>T	ENSP00000254854.4:p.Thr683Ile
NM_000180.3:c.2048C>T	NP_000171.1:p.Thr683Ile
XM_011523816.1:c.2048C>T	XP_011522118.1:p.Thr683Ile
NM_000180.4:c.2048C>T MANE Select	NP_000171.1:p.Thr683Ile